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  1. Article

    Open Access

    Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus

    Acute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria (PKU) and their treatment have a major impact on the life of affected chil...

    Florin Bösch, Nina A. Zeltner, Matthias R. Baumgartner… in Orphanet Journal of Rare Diseases (2022)

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